Canonical Allele Identifier: CA1977300968

Gene: SDHAF2

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.61446010_61446014delinsAAAAC , CM000673.2:g.61446010_61446014delinsAAAAC	GRCh38
NC_000011.9:g.61213482_61213486delinsAAAAC , CM000673.1:g.61213482_61213486delinsAAAAC	GRCh37
NC_000011.8:g.60970058_60970062delinsAAAAC	NCBI36
NG_023393.1:g.20886_20890delinsAAAAC , LRG_519:g.20886_20890delinsAAAAC

Transcript Alleles

HGVS	Amino-acid Change
ENST00000301761.7:c.440_444delinsAAAAC MANE Select	ENSP00000301761.3:p.Lys147=
ENST00000301761.6:c.440_444delinsAAAAC	ENSP00000301761.2:p.Lys147=
ENST00000536670.5:n.396+7897_396+7901delinsAAAAC
ENST00000537782.5:c.*86_*90delinsAAAAC	ENSP00000469951.1:n.*86_*90delinsAAAAC
ENST00000538594.5:c.370+7897_370+7901delinsAAAAC	ENSP00000440939.1:n.370+7897_370+7901delinsAAAAC
ENST00000541135.5:c.377+7890_377+7894delinsAAAAC	ENSP00000443130.1:n.377+7890_377+7894delinsAAAAC
ENST00000542074.1:c.*19_*23delinsAAAAC	ENSP00000469670.1:n.*19_*23delinsAAAAC
ENST00000542794.5:c.*442_*446delinsAAAAC	ENSP00000439983.1:n.*442_*446delinsAAAAC
ENST00000543044.2:c.404_408delinsAAAAC	ENSP00000440219.1:p.Lys135=
ENST00000543265.1:c.*63_*67delinsAAAAC	ENSP00000443660.1:n.*63_*67delinsAAAAC
ENST00000544025.5:n.465+7897_465+7901delinsAAAAC
ENST00000544801.5:c.370+7897_370+7901delinsAAAAC	ENSP00000442581.1:n.370+7897_370+7901delinsAAAAC
ENST00000544880.1:n.374+7897_374+7901delinsAAAAC
NM_017841.2:c.440_444delinsAAAAC , LRG_519t1:c.440_444delinsAAAAC	NP_060311.1:p.Lys147=
NM_017841.4:c.440_444delinsAAAAC MANE Select	NP_060311.1:p.Lys147=